Evidence map›Paper›PMID 41384039›Full record

ArticleFrontiers in genetics2025

Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation.

Andrés León, Alex S Aguirre, Anna Lindstrand, Marlene Ek, Vanessa I Romero

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Andrés LeónSchool of Medicine, Universidad San Francisco de Quito, Quito, Ecuador.
Alex S AguirreSchool of Medicine, Universidad San Francisco de Quito, Quito, Ecuador.
Anna LindstrandDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.
Marlene EkDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.
Vanessa I RomeroSchool of Medicine, Universidad San Francisco de Quito, Quito, Ecuador.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Chromosomes 3 and 8 harbor genes essential for neurodevelopment, skeletal formation, and metabolic regulation. We report a case of two half-siblings with neurodevelopmental delay and intellectual disability who inherited a derivative chromosome 3 from their asymptomatic mother. Chromosomal microarray analysis first identified a 7.12 Mb deletion in 3p26.3-p26.1 and a 48.86 Mb duplication in 8q22.1-q24.3, and findings were further characterized by whole genome sequencing and manual structural interpretation. The 3p deletion involved four pathogenic genes (

Indexed as

3p deletion syndrome8q duplicationcase reportchromosomal rearrangementderivative chromosomesneurodevelopmental disordersstructural variationWGS

Identifiers

PMID41384039
PMCPMC12694934

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.